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Variant : CV74016 (GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1) Homo sapiens

Symbol: CV74016
Name: GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|See cases [RCV000053263]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADGRA3   ANAPC4   CCDC149   CCKAR   DHX15   GBA3   KCNIP4   KCNIP4-IT1   LGI2   MIR573   MIR7978   PI4K2B   PPARGC1A   RBPJ   SEL1L3   SEPSECS   SEPSECS-AS1   SLC34A2   SMIM20   SOD3   TBC1D19   ZCCHC4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_21056309)_(26732162_?)del
NC_000004.11:g.(?_21057932)_(26733784_?)del
NC_000004.10:g.(?_20667030)_(26342882_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38421,056,309 - 26,732,162CLINVAR
GRCh37421,057,932 - 26,733,784CLINVAR
Build 36420,667,030 - 26,342,882CLINVAR
Cytogenetic Map44p15.31-15.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8620200
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.